ID   UW77iSMA-e.x
AC   CVCL_W563
SY   77iSMA
DR   SKIP; SKIP000318
DR   Wikidata; Q54992387
RX   PubMed=22723941;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (from parent cell line).
CC   Derived from site: In situ; Eye, ocular lens; UBERON=UBERON_0000965.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C98670; Werdnig-Hoffmann disease
DI   ORDO; Orphanet_83330; Proximal spinal muscular atrophy type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W562 ! GM09677
SX   Male
AG   1Y11M
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 13
//
RX   PubMed=22723941; DOI=10.1371/journal.pone.0039113; PMCID=PMC3378532;
RA   Sareen D., Ebert A.D., Heins B.M., McGivern J.V., Ornelas L.,
RA   Svendsen C.N.;
RT   "Inhibition of apoptosis blocks human motor neuron cell death in a
RT   stem cell model of spinal muscular atrophy.";
RL   PLoS ONE 7:E39113-E39113(2012).
//